[Congenital disorder of glycosylation type 1b. Experience with mannose treatment]. / Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa.

Congenital disorders of glycosylation (CDG) are recessively inherited multisystemic disorders resulting from several genetic defects affecting the assembly, transfer or processing of oligosaccharides onto proteins and other glycoconjugates. CDG type Ib is due to a deficiency of phosphomannose isomerase (PMI) encoded by the MPI gene. PMI catalyzes the interconversion of fructose-6-P and mannose-6-P. The clinical phenotype is characterized by gastro-intestinal and hepatic symptoms. In contrast to most CDG patients, there is no neurological affectation. It's a mannose treatable disorder. We report the first recognised case of CDG Ib in Spain. He presented at 6 months with hypoglycaemia, failure to thrive and hypertransaminasaemia. He subsequently developed an enteropathy with subtotal villous atrophy on biopsy. The %CDT was very high and he presented with a type 1 pattern in transferrin isoelectric focusing. PMI activity in fibroblasts was very deficient. Mutations in MPI gene at R219Q and R56fs were found. Clinical and biochemical parameters normalised after treatment with mannose 1 g/kg/day in 5 doses. CDG Ib should be considered in patients with hypoglycaemia, liver disease, enteropathy and hypercoagulability, in the absence of other common causes, and particularly if some of them are combined.

[Corn starch in the treatment of patients with glycogenosis type I and III]. / Almidón de maíz crudo en el tratamiento de pacientes con glucogenosis tipo I y III.

RATIONALE: Administering raw corn starch can maintain normoglycemia for long periods after being ingested, thus facilitating control in patients with type I and III glycogenosis. METHODS: The metabolic effects and the effects on the nutritional status of a treatment with fractionated administrations of raw starch are assessed in two patients with type I glycogenosis (ages 18 and 12 years) and one patient with type III glycogenosis (aged 13 years). In the first two cases the response was previously studied after administering a load of raw corn starch in a water suspension, in an amount similar to the estimated rate of endogenous glucose production during the fasting period (5 mg/kg/minute). RESULTS: The results of the overload of starch showed a normoglycemia and an absence of lactoacidosis between 4 and 6 hours after its ingestion. The three patients were given two doses of raw corn starch (2 g/kg/dose) at 1.00 and 5.00 hours during the night. After one year of treatment, all patients showed glycemia levels at 9.00 AM that were greater than 90 mg/dl and lactic acid levels that were lower than 2.4 mmol/l. Moreover, in two of the cases there was an increase in the growth rate. In all cases the amount of the hepatomegaly decreased as did the size of the hepatic adenomas that were present in two of the cases. CONCLUSIONS: In patients with type I and III glycogenosis, raw corn starch can balance the results of the nightly gastric glucose infusion, both with regard to the metabolic control and with regard to the growth.

[Pancreatitis in cystic fibrosis: association with genotype and pancreatic status]. / Pancreatitis en la fibrosis quística: correlación con el genotipo y estado pancreático.

INTRODUCTION: Pancreatitis is an uncommon complication of cystic fibrosis (CF). Either single or recurrent acute episodes can occur and it occasionally may follow a protracted course with relentless destruction of the pancreas. Moreover mild mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been found in many cases of idiopathic chronic pancreatitis. We describe a group of patients with CF who had one or more episodes of pancreatitis. We have estimated its prevalence in a large population of patients with CF across Spain. METHODS: A retrospective descriptive study was conducted by collecting the demographic, clinical and laboratory data, pancreatic status and genotype of CF patients who attended the CF Units in 5 Spanish hospitals. RESULTS: The overall number of CF patients under follow-up in the five centres was 520, of which 17 cases with pancreatitis were identified. The prevalence of pancreatitis in this population was 3.3%, higher than previously reported. Noticeably eight of the 17 patients (47.06%) had pancreatic insufficiency. This appears to be, partly, in contrast with that classically found, as this complication is usually associated with patients with a certain level of pancreatic reserve. No associations with genotype, age, gender or other factors were found. CONCLUSIONS: The prevalence of pancreatitis in our CF patients was higher than that found in other CF populations, and was not limited to patients with pancreatic sufficiency. It occurred mostly in teenagers and young adults often with mild pulmonary disease. The CF genotype was variable. The course of the patients should be carefully monitored, and further information on the long-term outcome of larger cohorts of patients is needed.

[Triple-therapy treatment during 1 month versus 2 weeks in gastroduodenal disease due to Helicobacter pylori in children]. / Tratamiento con triple terapia durante un mes versus dos semanas en la enfermedad gastroduodenal por Helicobacter pylori en el niño.

The aim of this study was to assess the clinical outcome of two different durations of triple therapy in children with Helicobacter pylori infection. We established two treatment groups: 1) Short treatment, including 2 week of bismuth subcitrate, amoxycillin and metronidazole treatment (n = 21) and 2) Long treatment, which included the same therapy for two weeks plus bismuth subcitrate alone for two weeks more (n = 26). We found no difference between the short and long treatments. The infection remained in 14% and 19%, respectively. In both groups, we observed children (19%) with persistent abdominal pain in spite of Helicobacter pylori eradication and gastritis healing. We conclude that it is not necessary to prolong triple therapy more than 2 weeks in order to have therapeutic success.

[Diencephalic syndrome: An uncommon cause of malnutrition]. / Síndrome diencefálico: una causa poco común de malnutrición.

Diencephalic syndrome (DS) is a complex of signs and symptoms related to hypothalamic dysfunction. Its main features are emaciation despite normal energy intake and an alert appearance. This syndrome has been described in association with space-occupying lesions of the hypothalamic-optic chiasm region, mainly low-grade glioma, and less often with tumors in the proximity of the IV ventricle. Two patients with DS are reported. The first patient was an 8-month old boy with classical features of DS. Extensive investigation of malabsorption revealed no abnormalities and the first neurologic sign was a rotatory nystagmus. Magnetic resonance imaging (MRI) showed evidence of a hypothalamic tumor, which was identified after surgical resection as a pilocytic astrocytoma. The second patient was an adolescent boy who presented a 20-kg weight loss over a 6-month period and psychological disturbances. Gastrointestinal disease was ruled out as a cause of malnutrition. Because of a polydipsia-polyuria syndrome, manifest while the patient was hospitalized with a suspected diagnosis of anorexia nervosa, MRI of the brain was performed. Multiple intracranial lesions were revealed, mainly in the hypothalamus, and were identified as a disseminated disgerminoma. No neurologic signs or symptoms were present. The patients died 2 years and 1 year after diagnosis, respectively. Although DS is rare, it should be considered in severe failure to thrive or emaciation despite adequate food intake and normal absorptive function of the small bowel.